Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature

Pier Marco Bianchi, Alessandra Bianchi, Maria Cristina Digilio, Filippo Maria Tucci, Emanuela Sitzia, Giovanni Carlo De Vincentiis

Research output: Contribution to journalArticle

Abstract

KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.

Original languageEnglish
Pages (from-to)109-112
Number of pages4
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume103
DOIs
Publication statusPublished - Dec 1 2017

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Keywords

  • ANKRD11
  • Hearing loss
  • KBG syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

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